{"0": "Weakness due to upper motor neuron dysfunction", "1": "Cognitive impairment", "2": "Reduced visual acuity", "3": "Abnormality of the cerebrospinal fluid", "4": "Abnormal cellular phenotype", "5": "Abnormal pyramidal sign", "6": "Vascular skin abnormality", "7": "Central scotoma", "8": "Nasogastric tube feeding in infancy", "9": "Ventricular preexcitation", "10": "Abnormal myocardium morphology", "11": "Hypertrophic cardiomyopathy", "12": "Functional motor deficit", "13": "Hypoglycemic seizures", "14": "Respiratory insufficiency", "15": "Developmental regression", "16": "Abnormal pericardium morphology", "17": "Psychomotor deterioration", "18": "Scotoma", "19": "Increased serum lactate", "20": "Abnormality of the mitochondrion", "21": "Peripheral demyelination", "22": "Unusual infection by anatomical site", "23": "Progressive gait ataxia", "24": "Episodic vomiting", "25": "Pain", "26": "Abnormality of cardiovascular system electrophysiology", "27": "Mental deterioration", "28": "Abnormal retinal morphology", "29": "Horizontal nystagmus", "30": "Symptomatic seizures", "31": "Ragged red muscle fibers", "32": "Abnormal biliary tract morphology", "33": "Bulbar signs", "34": "Dysarthria", "35": "Polyneuropathy", "36": "Nausea and vomiting", "37": "Cns demyelination", "38": "Abnormality of skull ossification", "39": "Subcutaneous nodule", "40": "Underdeveloped supraorbital ridges", "41": "Clumsiness", "42": "Hypersplenism", "43": "Optic neuropathy", "44": "Postural tremor", "45": "Abnormal csf protein level", "46": "Shoulder girdle muscle weakness", "47": "Skin nodule", "48": "Abnormal tissue metabolite concentration", "49": "Optic atrophy"}